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Alnylam Pharmaceuticals has tapped PANTHERx Rare Pharmacy to be a limited distribution partner for its newly approved therapy Givlaari (givosiran) to treat acute hepatic porphyria (AHP). The medication was approved in November by the U.S. Food and Drug Administration (FDA) for adults with AHP, a…

With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. From diagnosis and clinical trial design to manufacturing, pricing strategies, and ethical concerns, gene therapy — both its high…

Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s highest-ranking health official said. “We have to think about how our financing system can protect those with serious and rare illnesses.

In an ongoing effort to help advocacy groups address unmet needs in rare diseases such as porphyria, therapeutic company Alnylam is calling for applicants for its second annual global grants program, called Advocacy for Impact. The $50,000 grants will fund new projects that focus specifically on…

The U.S. Food and Drug Administration (FDA) has approved Alnylam Pharmaceuticals’ investigational candidate givosiran,  which will be marketed as Givlaari, for the treatment of adults with acute hepatic porphyria (AHP). The approval comes less than four months after the FDA accepted the therapy’s new drug application (NDA) for that…

Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. Disorder: The Rare Disease Film Festival strives to eventually host a film about every one of the nearly 7,000 rare…

Genetic variants linked to acute intermittent porphyria vary according to ethnicity, a systematic analysis among eight ethnic populations shows. The finding adds a new layer of knowledge that may help diagnose this rare metabolic disorder and the understanding of its underlying variability. The study, “Systematically…

Most acute hepatic porphyria (AHP) patients with recurrent attacks also experience significant chronic symptoms between attacks, with more than 75% of them needing to be hospitalized or treated with hemin, a study drawn from an ongoing trial into this disease’s natural history reports. EXPLORE, as this trial to characterize AHP in…

Adult patients with erythropoietic protoporphyria (EPP) who live in the United States can now be treated with Scenesse (afamelanotide) to increase their tolerance to sunlight. Scenesse has been approved by the U.S. Food and Drug Administration (FDA) to treat EPP patients who have a history of phototoxic reactions…

Toxic accumulation of protoporphyrin IX in the skin and liver of people with erythropoietic protoporphyria (EPP) — the most common porphyria of childhood — occurs through the action of the protein transporter ABCG2, a recent mouse study shows. The findings suggest that blocking ABCG2 might be a way of treating EPP.